Table 1.
Mutation | Type | Alteration | Locationb | Frequency |
---|---|---|---|---|
1 | Base change | Synonymous | 32205968 | 0 Japanese patients,c 12 controls |
2 | Base change | Synonymous | 32205869 | 10 Japanese patients,d 0 controls |
2f | Base change | Synonymous | (as above) | 8 Irish patients,e 1 control |
3 | Splice site | Loss of function | 32205611 | 1 Japanese patient, 0 controls |
4 | Base change | Asn=>Ser | 32205453 | 1 Irish patient, 0 controls |
5 | Base change | Thr=>Arg | 32205391 | 1 Irish patient, 0 controls |
6 | Insertion | 4AA duplication | 32205307 | 1 Japanese patient, 0 controls |
aGroup sizes: Japanese patients (n = 60) and Japanese controls (n = 56); Irish patients (n = 30) and Irish controls (n = 30).
bLocation given with respect to the International Human Genome Sequencing Consortium March 2006 human reference sequence (NCBI Build 36.1).
cProbability p <0.001; d p = 0.0014, e p = 0.026 by Fisher's exact test, see also methods
fListed twice, as the frequencies and associated probabilities differ in the two populations